Canonical Allele Identifier: CA2072411441
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131529489G= , CM000674.2:g.131529489G= GRCh38
NC_000012.11:g.132014034G= , CM000674.1:g.132014034G= GRCh37
NC_000012.10:g.130579987G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945564.1:n.1076+286C=
XR_001749407.2:n.1067+286C=